The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Autor: Fellype C. Barreto, Nan Chen, Huda Al Khawaja, Faisal Al Ismaili, Dau-Ming Niu, Sergey Moiseev, Gheona Altarescu, Sergey Kutsev, Sheela Nampoothiri, Mirelle Kramis, Long-Sun Ro, Juan Politei, Dominique P. Germain, Farid Haddoum, Fernando Suárez-Obando, Irina Maksimova, Dung Vu Chi, Khanh Ngoc Nguyen, Fatemeh Hadipour
Přispěvatelé: Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), First Faculty of Medicine Charles University [Prague], Sanofi Genzyme, D.P. Germain has received honoraria and consulting fees from Amicus Therapeutics, Sanofi Genzyme, and Takeda. S. Moiseev has received travel grants and/or fees for participation in advisory boards from Sanofi Genzyme and Takeda. G. Altarescu has received speaker honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda. F.C. Barreto has received speaker honoraria from Sanofi Genzyme. I. Maksimova is an employee of Sanofi Genzyme. M. Kramis has received honoraria as scientific advisor and speaker from Sanofi Genzyme. S. Nampoothiri has received honoraria for travel and attending advisory boards from Sanofi Genzyme. D‐M. Niu has received research funding from Sanofi Genzyme and Takeda. J. Politei has received honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda and consulting fees from Sanofi Genzyme and Takeda. S. Kutsev has received honoraria from Sanofi Genzyme. F. Suárez‐Obando, F. Al Ismaili, F. Haddoum, L‐S. Ro, and N. Chen have received honoraria for travel and advisory board attendance from Sanofi Genzyme. H. Al Khawaja, F. Hadipour, K.N. Nguyen, and D. Vu Chi declare no conflicts of interest., The advisory board meeting was organized and funded by Sanofi Genzyme. The attendees recommended that the information that was shared and discussed would be useful to inform healthcare professionals and suggested preparation of a publication. The authors received editorial/writing support in the preparation of this manuscript from Tom Rouwette, PhD, of Excerpta Medica, funded by Sanofi Genzyme, but no payment for writing this publication. The authors are responsible for the content of this manuscript and the decision to submit the manuscript for publication.
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Molecular Genetics and Genomic Medicine
Molecular Genetics and Genomic Medicine, Wiley, 2021, 9 (5), pp.e1666. ⟨10.1002/mgg3.1666⟩
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
ISSN: 2324-9269
DOI: 10.1002/mgg3.1666⟩
Popis: Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end‐stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non‐specificity of early symptoms. Newborn screening and screening of at‐risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise. Methods We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts’ own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries. Results There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists. Conclusion In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.
This review article discusses the literature published on family genetic testing for Fabry disease and the experiences of 19 Fabry experts from 15 countries regarding family screening in their countries and the barriers they are facing. Together, this literature overview and combined global experience provides valuable insights to medical geneticists working to improve the diagnosis of rare diseases within their countries and globally.
Databáze: OpenAIRE
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